An illustrative case of Léri-Weill dyschondrosteosis

An illustrative case of Léri-Weill dyschondrosteosis

We report on a girl presenting Léri-Weill dyschondrosteosis (LWD) due to deletion of the SHOX gene. Her family included individuals with short stature alone or with both short stature and mesomelia or Madelung's deformity. The deletion was demonstrated through detection of hemizygosity...

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Bibliographic Details
Main Authors:	Renata de Lima, Cristina Forti Iamada, Luciana Oliveira Silva, Maricilda Palandi de Mello, Andréa Trevas Maciel-Guerra
Format:	Article
Language:	English
Published:	Sociedade Brasileira de Genética 2008-01-01
Series:	Genetics and Molecular Biology
Subjects:	Léri-Weill dyschondrosteosis Madelung's deformity pseudoautosomal dominant inheritance short stature SHOX gene
Online Access:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000500007

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